{"entity": "journal", "iuid": "b7c068aa149a4267b3a23774cecbad62", "timestamp": "2026-08-29T04:15:52.514Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/journal/Genet%20Med.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/journal/Genet%20Med"}}, "title": "Genet Med", "issn": "1530-0366", "issn-l": null, "publications_count": 2, "publications": [{"entity": "publication", "iuid": "12ee2fe7d66248c790220a56cc6c7284", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/12ee2fe7d66248c790220a56cc6c7284.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/12ee2fe7d66248c790220a56cc6c7284"}}, "title": "DLG4-related synaptopathy: a new rare brain disorder.", "authors": [{"family": "Rodr\u00edguez-Palmero", "given": "Agust\u00ed", "initials": "A"}, {"family": "Boerrigter", "given": "Melissa Maria", "initials": "MM"}, {"family": "G\u00f3mez-Andr\u00e9s", "given": "David", "initials": "D"}, {"family": "Aldinger", "given": "Kimberly A", "initials": "KA"}, {"family": "Marcos-Alcalde", "given": "\u00cd\u00f1igo", "initials": "\u00cd"}, {"family": "Popp", "given": "Bernt", "initials": "B"}, {"family": "Everman", "given": "David B", "initials": "DB"}, {"family": "Lovgren", "given": "Alysia Kern", "initials": "AK"}, {"family": "Arpin", "given": "Stephanie", "initials": "S"}, {"family": "Bahrambeigi", "given": "Vahid", "initials": "V"}, {"family": "Beunders", "given": "Gea", "initials": "G"}, {"family": "Bisgaard", "given": "Anne-Marie", "initials": "AM"}, {"family": "Bjerregaard", "given": "V A", "initials": "VA"}, {"family": "Bruel", "given": "Ange-Line", "initials": "AL"}, {"family": "Challman", "given": "Thomas D", "initials": "TD"}, {"family": "Cogn\u00e9", "given": "Benjamin", "initials": "B"}, {"family": "Coubes", "given": "Christine", "initials": "C"}, {"family": "de Man", "given": "Stella A", "initials": "SA"}, {"family": "Denomm\u00e9-Pichon", "given": "Anne-Sophie", "initials": "AS"}, {"family": "Dye", "given": "Thomas J", "initials": "TJ"}, {"family": "Elmslie", "given": "Frances", "initials": "F"}, {"family": "Feuk", "given": "Lars", "initials": "L"}, {"family": "Garc\u00eda-Mi\u00f1a\u00far", "given": "Sixto", "initials": "S"}, {"family": "Gertler", "given": "Tracy", "initials": "T"}, {"family": "Giorgio", "given": "Elisa", "initials": "E"}, {"family": "Gruchy", "given": "Nicolas", "initials": "N"}, {"family": "Haack", "given": "Tobias B", "initials": "TB"}, {"family": "Haldeman-Englert", "given": "Chad R", "initials": "CR"}, {"family": "Haukanes", "given": "Bj\u00f8rn Ivar", "initials": "BI"}, {"family": "Hoyer", "given": "Juliane", "initials": "J"}, {"family": "Hurst", "given": "Anna C E", "initials": "ACE"}, {"family": "Isidor", "given": "Bertrand", "initials": "B"}, {"family": "Soller", "given": "Maria Johansson", "initials": "MJ"}, {"family": "Kushary", "given": "Sulagna", "initials": "S"}, {"family": "Kvarnung", "given": "Malin", "initials": "M"}, {"family": "Landau", "given": "Yuval E", "initials": "YE"}, {"family": "Leppig", "given": "Kathleen A", "initials": "KA"}, {"family": "Lindstrand", "given": "Anna", "initials": "A"}, {"family": "Kleinendorst", "given": "Lotte", "initials": "L"}, {"family": "MacKenzie", "given": "Alex", "initials": "A"}, {"family": "Mandrile", "given": "Giorgia", "initials": "G"}, {"family": "Mendelsohn", "given": "Bryce A", "initials": "BA"}, {"family": "Moghadasi", "given": "Setareh", "initials": "S"}, {"family": "Morton", "given": "Jenny E", "initials": "JE"}, {"family": "Moutton", "given": "Sebastien", "initials": "S"}, {"family": "M\u00fcller", "given": "Amelie J", "initials": "AJ"}, {"family": "O'Leary", "given": "Melanie", "initials": "M"}, {"family": "Pacio-M\u00edguez", "given": "Marta", "initials": "M"}, {"family": "Palomares-Bralo", "given": "Maria", "initials": "M"}, {"family": "Parikh", "given": "Sumit", "initials": "S"}, {"family": "Pfundt", "given": "Rolph", "initials": "R"}, {"family": "Pode-Shakked", "given": "Ben", "initials": "B"}, {"family": "Rauch", "given": "Anita", "initials": "A"}, {"family": "Repnikova", "given": "Elena", "initials": "E"}, {"family": "Revah-Politi", "given": "Anya", "initials": "A"}, {"family": "Ross", "given": "Meredith J", "initials": "MJ"}, {"family": "Ruivenkamp", "given": "Claudia A L", "initials": "CAL"}, {"family": "Sarrazin", "given": "Elisabeth", "initials": "E"}, {"family": "Savatt", "given": "Juliann M", "initials": "JM"}, {"family": "Schl\u00fcter", "given": "Agatha", "initials": "A"}, {"family": "Sch\u00f6newolf-Greulich", "given": "Bitten", "initials": "B"}, {"family": "Shad", "given": "Zohra", "initials": "Z"}, {"family": "Shaw-Smith", "given": "Charles", "initials": "C"}, {"family": "Shieh", "given": "Joseph T", "initials": "JT"}, {"family": "Shohat", "given": "Motti", "initials": "M"}, {"family": "Spranger", "given": "Stephanie", "initials": "S"}, {"family": "Thiese", "given": "Heidi", "initials": "H"}, {"family": "Mau-Them", "given": "Frederic Tran", "initials": "FT"}, {"family": "van Bon", "given": "Bregje", "initials": "B"}, {"family": "van de Burgt", "given": "Ineke", "initials": "I"}, {"family": "van de Laar", "given": "Ingrid M B H", "initials": "IMBH"}, {"family": "van Drie", "given": "Esm\u00e9e", "initials": "E"}, {"family": "van Haelst", "given": "Mieke M", "initials": "MM"}, {"family": "van Ravenswaaij-Arts", "given": "Conny M", "initials": "CM"}, {"family": "Verdura", "given": "Edgard", "initials": "E"}, {"family": "Vitobello", "given": "Antonio", "initials": "A"}, {"family": "Waldm\u00fcller", "given": "Stephan", "initials": "S"}, {"family": "Whiting", "given": "Sharon", "initials": "S"}, {"family": "Zweier", "given": "Christiane", "initials": "C"}, {"family": "Prada", "given": "Carlos E", "initials": "CE"}, {"family": "de Vries", "given": "Bert B A", "initials": "BBA"}, {"family": "Dobyns", "given": "William B", "initials": "WB"}, {"family": "Reiter", "given": "Simone F", "initials": "SF"}, {"family": "G\u00f3mez-Puertas", "given": "Paulino", "initials": "P"}, {"family": "Pujol", "given": "Aurora", "initials": "A"}, {"family": "T\u00fcmer", "given": "Zeynep", "initials": "Z", "orcid": "0000-0002-4777-5802", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d3074d6787d64909b07539af517506de.json"}}], "type": "journal article", "published": "2021-05-00", "journal": {"title": "Genet Med", "issn": "1530-0366", "volume": "23", "issue": "5", "pages": "888-899", "issn-l": null}, "abstract": "Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.\n\nThe clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.\n\nThe clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.\n\nThe present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.", "doi": "10.1038/s41436-020-01075-9", "pmid": "33597769", "labels": [], "xrefs": [{"db": "pii", "key": "S1098-3600(21)01446-5"}], "notes": [], "created": "2026-08-20T08:50:10.465Z", "modified": "2026-08-20T08:50:10.584Z"}, {"entity": "publication", "iuid": "53f37c61abc04366814ba1778282bf2a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/53f37c61abc04366814ba1778282bf2a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/53f37c61abc04366814ba1778282bf2a"}}, "title": "Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions.", "authors": [{"family": "Reisberg", "given": "Sulev", "initials": "S"}, {"family": "Krebs", "given": "Kristi", "initials": "K"}, {"family": "Lepamets", "given": "Maarja", "initials": "M"}, {"family": "Kals", "given": "Mart", "initials": "M"}, {"family": "M\u00e4gi", "given": "Reedik", "initials": "R"}, {"family": "Metsalu", "given": "Kristjan", "initials": "K"}, {"family": "Lauschke", "given": "Volker M", "initials": "VM"}, {"family": "Vilo", "given": "Jaak", "initials": "J"}, {"family": "Milani", "given": "Lili", "initials": "L"}], "type": "journal article", "published": "2019-06-00", "journal": {"title": "Genet Med", "issn": "1530-0366", "volume": "21", "issue": "6", "pages": "1345-1354", "issn-l": null}, "abstract": "Biomedical databases combining electronic medical records and phenotypic and genomic data constitute a powerful resource for the personalization of treatment. To leverage the wealth of information provided, algorithms are required that systematically translate the contained information into treatment recommendations based on existing genotype-phenotype associations.\n\nWe developed and tested algorithms for translation of preexisting genotype data of over 44,000 participants of the Estonian biobank into pharmacogenetic recommendations. We compared the results obtained by genome sequencing, exome sequencing, and genotyping using microarrays, and evaluated the impact of pharmacogenetic reporting based on drug prescription statistics in the Nordic countries and Estonia.\n\nOur most striking result was that the performance of genotyping arrays is similar to that of genome sequencing, whereas exome sequencing is not suitable for pharmacogenetic predictions. Interestingly, 99.8% of all assessed individuals had a genotype associated with increased risks to at least one medication, and thereby the implementation of pharmacogenetic recommendations based on genotyping affects at least 50 daily drug doses per 1000 inhabitants.\n\nWe find that microarrays are a cost-effective solution for creating preemptive pharmacogenetic reports, and with slight modifications, existing databases can be applied for automated pharmacogenetic decision support for clinicians.", "doi": "10.1038/s41436-018-0337-5", "pmid": "30327539", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6752278"}, {"db": "pii", "key": "S1098-3600(21)01650-6"}], "notes": [], "created": "2026-08-21T11:48:00.994Z", "modified": "2026-08-21T11:48:01.010Z"}], "created": "2026-08-20T08:50:10.542Z", "modified": "2026-08-20T08:50:10.542Z"}